Universität zu Köln

Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2020). Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 130 - 132. LONDON: SPRINGERNATURE. ISSN 1476-5438

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Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Dworschak, G. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Punetha, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kalanithy, J. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mingardo, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Erdem, H. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Akdemir, Z. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Karaca, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mitani, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Marafi, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fatih, J. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jhangiani, S. N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hunter, J. V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dakal, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dhabhai, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dabbagh, O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Alsaif, H. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Alkuraya, F. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Maroofian, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Houlden, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Efthymiou, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dominik, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Salpietro, V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sultan, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Haider, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bibi, F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoefele, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Riedhammer, K. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wagner, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Guella, I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Demos, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Keren, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Buratti, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Charles, P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nava, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Valkanas, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Waddell, L. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jones, K. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oates, E. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cooper, S. T. UNSPECIFIED UNSPECIFIED UNSPECIFIED MacArthur, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schnur, R. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoganson, G. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Burton, J. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED McEntagart, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pehlivan, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Posey, J. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lupski, J. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Reutter, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-308978
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	28
Number:	SUPPL 1
Page Range:	S. 130 - 132
Date:	2020
Publisher:	SPRINGERNATURE
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/30897